ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.6093C>T (p.His2031=) (rs150072383)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000730251 SCV000857976 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
Invitae RCV001086704 SCV001017176 likely benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing

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